ubiquitin protein ligase E3A

Preferred Label : ubiquitin protein ligase E3A;

Approved symbol HGNC : UBE3A;

Name synonyms HGNC : Angelman syndrome;

Alias symbols HGNC : AS; ANCR; FLJ26981; E6-AP;

Chromosome HGNC : 15q11.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000114062;

Details

Origin ID

HGNC:12496;

UMLS CUI

C1421293;

Automatic exact mappings (from CISMeF team)
- Angelman Syndrome [NCIt concept]
- Angelman syndrome [OMIM Phenotype]
- Angelman syndrome [PASCAL descriptor]
- Angelman syndrome [ORDO Disease]
- Angelman syndrome [DO Concept]
- Angelman syndrome [ICD-11 Subcategory]
- Angelman syndrome (disorder) [SNOMED CT concept]
- Angelman's syndrome [MedDRA Preferred Term]
- Other deletions of part of a chromosome [ICD-10 Sub-category]
- Ubiquitin-protein ligase e3a [OMIM gene]
- angelman syndrome [MeSH concept]
- angelman syndrome [SNOMED Notion]
- ubiquitin protein ligase E3A [ORDO Gene]
NCIt concept
- UBE3A Gene [NCIt concept]
OMIM gene
- Ubiquitin-protein ligase e3a [OMIM gene]
Orphanet gene
- ubiquitin protein ligase E3A [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- UBE3A Gene [NCIt concept]
- UBE3A gene [LOINC component]
- Ubiquitin-protein ligase e3a [OMIM gene]

Keyword's position in hierarchy(ies) :

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